Delayed Presentation and Prolonged Survival of a Child with Surfactant Protein B Deficiency.
J Pediatr
; 190: 268-270.e1, 2017 11.
Article
em En
| MEDLINE
| ID: mdl-28888561
ABSTRACT
Surfactant protein B encoding gene mutations have been related to early onset fatal respiratory distress in full-term neonates. We report a school-aged male child homozygous for a surfactant protein B encoding gene missense mutation who presented after the neonatal period. His respiratory insufficiency responded to high dose intravenous methylprednisolone and hydroxychloroquine.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteinose Alveolar Pulmonar
/
Proteína B Associada a Surfactante Pulmonar
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Diagnóstico Tardio
Tipo de estudo:
Diagnostic_studies
Limite:
Child
/
Humans
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Male
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article